A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5261623



Internal ID8006672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35826801..35828247hg38UCSC Ensembl
Outerchr22:36222848..36224294hg19UCSC Ensembl
Outerchr22:34552794..34554240hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381447
hg191447
hg181447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2423870
Supporting Variants
SamplesNA18507
Known GenesRBFOX2
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5261623
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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